Varaico: Literature-Extracted Genetic Variants

Gene:TRAM1
Variant:p.E41_I42Splc

TRAM1

43 papers

RefSeq Summary

This gene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences glycosylation and facilitates the translocation of secretory protein...

Pfam Domains

TRAM_LAG1_CLN8aa 118–317UCSCTLC domain

Gene Aliases

HGNC Name

translocation associated membrane protein 1

HGNC Alias Symbol

TRAMP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014294.6
p.E41_I42Splc
c.124-813A>G
Surrounding Variants
1 paper
NM_014294.6
p.E41_I42Splc
c.124-60G>A
1 paper
NM_014294.6
p.T43M
c.128C>T
1 paper
NM_014294.6
p.Y100*
c.300T>G
1 paper
NM_014294.6
p.D103_K104Splc
c.310-1G>A
2 papers
NM_014294.6
p.S112P
c.334T>C
2 papers
NM_014294.6
p.K118*
c.352A>T
1 paper
NM_014294.6
p.G136D
c.407G>A
1 paper
NM_014294.6
p.S142_E143Splc
c.426+37T>C
1 paper
NM_014294.6
p.N144D
c.430A>G
1 paper
NM_014294.6
p.A155P
c.463G>C
2 papers
NM_014294.6
p.M32L
c.94A>T
1 paper
NM_014294.6
p.L14L
c.40C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."